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These reference sequences exist independently of genome builds. Explain
These reference sequences are curated independently of the genome
annotation cycle, so their versions may not match the RefSeq versions in the current
genome build. Identify version mismatches by comparing the version of the RefSeq in
this section to the one reported in Genomic regions,
transcripts, and products above.
Genomic
-
NG_012047.3 RefSeqGene
- Range
-
5029..89066
- Download
- GenBank, FASTA, Sequence Viewer (Graphics), LRG_297
mRNA and Protein(s)
-
NM_000465.4 → NP_000456.2 BRCA1-associated RING domain protein 1 isoform 1
See identical proteins and their annotated locations for NP_000456.2
Status: REVIEWED
- Description
- Transcript Variant: This variant (1) encodes the longest isoform (1).
- Source sequence(s)
-
AC016708, BC126426, BC126428, BU753556, BX098964, DB088853
- Consensus CDS
-
CCDS2397.1
- UniProtKB/Swiss-Prot
- F6MDH7, F6MDH8, F6MDH9, O43574, Q53SS5, Q99728
- UniProtKB/TrEMBL
- A0AVN2, B2RAM8
- Related
- ENSP00000260947.4, ENST00000260947.9
- Conserved Domains (6) summary
-
- smart00292
Location:669 → 767
- BRCT; breast cancer carboxy-terminal domain
- cd00027
Location:568 → 641
- BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
- cd00204
Location:424 → 544
- ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
- pfam12796
Location:432 → 524
- Ank_2; Ankyrin repeats (3 copies)
- pfam14835
Location:41 → 105
- zf-RING_6; zf-RING of BARD1-type protein
- sd00045
Location:427 → 458
- ANK; ANK repeat [structural motif]
-
NM_001282543.2 → NP_001269472.1 BRCA1-associated RING domain protein 1 isoform 2
Status: REVIEWED
- Description
- Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2, also known as alpha) lacks an internal segment, compared to isoform 1.
- Source sequence(s)
-
AC016708, BC126426, BC126428, BU753556, BX098964, DB088853, JF790280
- Consensus CDS
-
CCDS74646.1
- UniProtKB/TrEMBL
- A0AVN2, B2RAM8
- Related
- ENSP00000480470.1, ENST00000617164.5
- Conserved Domains (6) summary
-
- smart00292
Location:650 → 748
- BRCT; breast cancer carboxy-terminal domain
- cd00027
Location:549 → 622
- BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
- cd00204
Location:405 → 525
- ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
- pfam12796
Location:413 → 505
- Ank_2; Ankyrin repeats (3 copies)
- sd00045
Location:408 → 439
- ANK; ANK repeat [structural motif]
- cl17238
Location:41 → 86
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
-
NM_001282545.2 → NP_001269474.1 BRCA1-associated RING domain protein 1 isoform 3
Status: REVIEWED
- Description
- Transcript Variant: This variant (3) lacks four consecutive exons in the coding region, compared to variant 1. The resulting isoform (3, also known as phi) lacks an internal segment, compared to isoform 1.
- Source sequence(s)
-
AC016708, BU753556, DB088853, JF790283
- Consensus CDS
-
CCDS74647.1
- UniProtKB/TrEMBL
- C9IYG1, F6MDI0
- Related
- ENSP00000392245.2, ENST00000421162.2
- Conserved Domains (3) summary
-
- smart00292
Location:218 → 316
- BRCT; breast cancer carboxy-terminal domain
- cd00027
Location:117 → 190
- BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
- cl17238
Location:41 → 73
- RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
-
NM_001282548.2 → NP_001269477.1 BRCA1-associated RING domain protein 1 isoform 4
See identical proteins and their annotated locations for NP_001269477.1
Status: REVIEWED
- Description
- Transcript Variant: This variant (4) lacks five consecutive exons in the coding region, compared to variant 1. The resulting isoform (4, also known as delta) lacks an internal segment, compared to isoform 1.
- Source sequence(s)
-
AC016708, BU753556, DB088853, JF790284
- Consensus CDS
-
CCDS74645.1
- UniProtKB/TrEMBL
- F6MDI0, F6MDI1
- Related
- ENSP00000484464.1, ENST00000613374.5
- Conserved Domains (2) summary
-
- smart00292
Location:199 → 297
- BRCT; breast cancer carboxy-terminal domain
- cd00027
Location:98 → 171
- BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
-
NM_001282549.2 → NP_001269478.1 BRCA1-associated RING domain protein 1 isoform 5
Status: REVIEWED
- Description
- Transcript Variant: This variant (5) six consecutively exons in the coding region, compared to variant 1. The resulting isoform (5, also known as epsilon) lacks an internal segment, compared to isoform 1.
- Source sequence(s)
-
AC016708, BU753556, DB088853, JF790285
- Consensus CDS
-
CCDS74648.1
- UniProtKB/TrEMBL
- A0A087WZ19, F6MDI2
- Related
- ENSP00000482293.1, ENST00000619009.5
- Conserved Domains (2) summary
-
- smart00292
Location:156 → 254
- BRCT; breast cancer carboxy-terminal domain
- pfam14835
Location:41 → 105
- zf-RING_6; zf-RING of BARD1-type protein
RNA
-
NR_104212.2 RNA Sequence
Status: REVIEWED
- Description
- Transcript Variant: This variant (6) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
- Source sequence(s)
-
AC016708, AK301843, AK314260, BC126426, BU753556, BX098964, DB088853
-
NR_104215.2 RNA Sequence
Status: REVIEWED
- Description
- Transcript Variant: This variant (7) lacks two consecutive exons in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
- Source sequence(s)
-
AC016708, BC126426, BC126428, BU753556, BX098964, DB088853, JF790281
-
NR_104216.2 RNA Sequence
Status: REVIEWED
- Description
- Transcript Variant: This variant (8) lacks an internal exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
- Source sequence(s)
-
AC016708, BC126428, BU753556, BX098964, DB088853, JF790282